90 Nakajo-Nishimura syndrome: a case report

Abstract Introduction Nakajo-Nishimura is a rare autosomal recessive inherited autoinflammatory condition that has been described mainly in the Japanese population, but very similar syndromes, such as Candle syndrome, have been reported in Western populations. There is no gold standard treatment for this condition. This is a case report of a 12-year-old female who most likely has Nakajo-Nishimura syndrome. Methods and results A 12-year-old female (born in 2010), from Batna (Algeria), was born of a first-degree consanguineous marriage, and the second of two children. She had no relevant past medical history. She was referred on account of dermatology symptoms, occurring very early in life, with papules and distal purplish erythema located in fingers and toes associated with an acrocyanosis. Subsequently, diffuse arthralgias appeared, exacerbated by cold, with a delay in walking, around the age of 3 years. Clinical examination revealed a thread-like appearance of the fingers with shortening of the 5th digit, and small erythematous lesions, without sclerosis or Raynaud's disease. There was no sign of synovitis or joint deformities. Hepatosplenomegaly with dental dysgenesis and delayed puberty were noted. The laboratory tests showed an inflammatory syndrome—ESR (Erythrocyte Sedimentation Rate) of 100 mm the first h, positive CRP (C-reactive protein), hyper alpha and gamma globulinaemia, and inflammatory anaemia with thrombocytopaenia. The genetic work-up is currently in progress. The treatment was Hydroxychloroquine and steroids. After the onset of a nephrotic syndrome, Mycophenolate mofetil (MMF) was added. The renal biopsy found a renal amyloidosis. The patient was in chronic renal failure stage 4 requiring hemodialysis. Conclusion Extremely rare syndrome described in 30 patients in the literature and whose treatment remains symptomatic and does not prevent complications. Disclosure of Interest None declared

Introduction TINU (Tubulo-interstitial Nephritis and Uveitis) or oculo-renal syndrome was first described by Dobrin et al. in 1975. >100 cases (mostly paediatric) have been reported since then. It should be considered as diagnosis of elimination, as some iatrogenic, infectious, or systemic diseases may cause similar oculo-renal manifestations. There is no clear therapeutic consensus. However, the rapid initiation of high-dose corticosteroid therapy was associated with favorable outcome in the majority of published cases, as well as in our patient. Case report We report the case of an acute tubulointerstitial nephritis associated with uveitis in 11-year-old girl who presented with abdominal pain, vomiting and asthenia of one month. Laboratory tests revealed acute renal failure with proteinuria and aseptic leucocyturia. An inflammatory syndrome was found with erythrocyte sedimentation rate of 92 mm and inflammatory anaemia. Hypoproteinemia and polyclonal hypergamma-globulinaemia was found. No aetiology was found. The renal biopsy revealed a tubulo-nephritis with an interstitial inflammatory infiltrate of lymphoid cells and normal glomeruli. The patient was treated with high-dose of steroids (Methylprednisolone pulse followed by oral Prednisone 1 mg/kg/d with gradual weaning). We noted a progressive improvement of the renal function and the appearance of ocular pain and a decrease in visual acuity. The ophthalmological examination revealed bilateral uveitis. The diagnosis of TINU syndrome was confirmed and the patient received steroids with progressive resolution of the uveitis.

Conclusion
In the presence of any uveitis of unknown cause associated with disturbed renal function the diagnosis of TINU syndrome should be considered. This syndrome requires more precise diagnostic criteria and standardized management.

Introduction
Ankylosing spondylitis is a common chronic rheumatic disease in male young adults. Brucellosis is a worldwide zoonosis and remains endemic in several Mediterranean countries, which may have features similar to other diseases, leading to serious problems of differential diagnosis. This case report described a case of a 14-year-old male diagnosed with ankylosing spondylitis whose exploration reveals associated subacute brucellosis.

Methods and results
A 14-years-old boy from Batna, born of a first degree consanguineous marriage, and the 2nd of a sibling of 05 children. He had no relevant past medical history. He complained of chronic polyarthritis of three years, affecting the large joints: hip, knees, ankles, elbows and wrists as well as the cervico-dorsolumbar spine. Pain on palpation of the tendon insertion zones without fever. Delayed growth in weight and height was found. He was misdiagnosed at disease onset as Rheumatic fever treated by Extencillin with vitamin D3 supplementation but no improvement was noticed. The Ultrasound examination of the joints revealed moderate effusion with synovial thickening of the hip (hip synovitis). CT scan of the cervical-dorsal-lumbosacral spine revealed a bilateral erosive sacroiliitis with cervical ankylosis of the posterior apophyseal joints at C2-C3, C3-C4, and C4-C5 levels. A biological inflammatory syndrome was found. Brucellosis serology (Rose Bengal and Wright) was positive twice (IgM and IgG). Quantiferon test was negative. The treatment of the Brucellosis was started (Doxicyclines, Gentamycin, and Rifampicin). Non-steroidal anti-inflammatory drugs were also prescribed. Conclusion Brucellosis is a differential diagnosis of spondyloarthritis. However, an association of both diseases might exist and should be adequately managed.

Disclosure of Interest: None declared
Introduction Nakajo-Nishimura is a rare autosomal recessive inherited autoinflammatory condition that has been described mainly in the Japanese population, but very similar syndromes, such as Candle syndrome, have been reported in Western populations. There is no gold standard treatment for this condition. This is a case report of a 12-year-old female who most likely has Nakajo-Nishimura syndrome.

Methods and results
A 12-year-old female (born in 2010), from Batna (Algeria), was born of a first-degree consanguineous marriage, and the second of two children. She had no relevant past medical history. She was referred on account of dermatology symptoms, occurring very early in life, with papules and distal purplish erythema located in fingers and toes associated with an acrocyanosis. Subsequently, diffuse arthralgias appeared, exacerbated by cold, with a delay in walking, around the age of 3 years. Clinical examination revealed a thread-like appearance of the fingers with shortening of the 5 th digit, and small erythematous lesions, without sclerosis or Raynaud's disease. There was no sign of synovitis or joint deformities. Hepatosplenomegaly with dental dysgenesis and delayed puberty were noted. The laboratory tests showed an inflammatory syndrome-ESR (Erythrocyte Sedimentation Rate) of 100 mm the first h, positive CRP (C-reactive protein), hyper alpha and gamma globulinaemia, and inflammatory anaemia with thrombocytopaenia. The genetic work-up is currently in progress. ii34

E POSTERS
The treatment was Hydroxychloroquine and steroids. After the onset of a nephrotic syndrome, Mycophenolate mofetil (MMF) was added. The renal biopsy found a renal amyloidosis. The patient was in chronic renal failure stage 4 requiring hemodialysis. Conclusion Extremely rare syndrome described in 30 patients in the literature and whose treatment remains symptomatic and does not prevent complications.

Introduction
Infection is one of the leading causes of morbidity and mortality in Systemic Lupus Erythematosus (SLE). Bacterial infections are the most frequent, followed by viral and fungal infections. Therapeutic factors as well as disease-and genetic related factors, all contribute to a lupus patient's increased susceptibility to infections. This report describes a case of a 12-year-old female who presented with features of systemic lupus erythematosus with inaugural infectious joint involvement.

Methods and results
An 11-year-old girl, from Biskra (Algeria), from a non-consanguineous marriage and the 7th of eight children. She had no relevant past medical history. She was referred to our department for the diagnostic and therapeutic management of a suspected systemic lupus erythematosus.
The girl had a fever with a malar erythema and oral ulcerations. Arthralgia of the right hip was reported. Laboratory tests showed a positive CRP (C-reactive protein) and a positive Procalcitonin. The immunological assessment revealed Anti DNA, Anti Sm and Anti RNP positive. Ultrasound of the hip showed a very large arthro-synovial cyst of the anterior face of the right hip of 07 cm compressing the psoas muscle. The cyst was drained and antibiotic therapy initiated. Hydroxychloroquine was started while waiting for the rest of the exploration.

Conclusion
Joint involvement in systemic lupus erythematosus is frequent but an infectious complication is possible even at the disease onset and should not be missed.
No conflicts of interest to declare.